rs80359752, BRCA2

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.882 0.200 13 32380136 frameshift variant A/-;AA delins 0.700 1.000 13 1995 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 13 32380136 frameshift variant A/-;AA delins 0.700 1.000 13 2001 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.882 0.200 13 32380136 frameshift variant A/-;AA delins 0.700 1.000 4 2001 2013
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.882 0.200 13 32380136 frameshift variant A/-;AA delins 0.700 0